title: Hypoxia-inducible factor-1α polymorphisms link to coronary artery collateral development and clinical presentation of coronary artery disease.
abstract: OBJECTIVE
  This study aimed to investigate the association of Hypoxia-inducible factor-1α (HIF-1α) C1772T and G1790A single nucleotide polymorphisms (SNPs) with: incidence, clinical type, severity of coronary atherosclerosis and coronary collaterals of coronary artery disease (CAD).
  
  
  METHODS
  The clinical data and genomic DNA were gathered in 958 subjects, including 560 controls and 398 patients with CAD. CAD was confirmed with coronary angiography (CAG). The genotypes for two SNPs were determined by high resolution melting after PCR amplification.
  
  
  RESULTS
  Neither the HIF-1α C1772T nor the G1790A genotype was significantly associated with CAD and, no gene-gene or gene-environmental interactions were identified. However, both HIF-1α C1772T and G1790A (P<0.05) alleles were associated with clinical type and formation of coronary collaterals (P<0.05). Patients carrying genotype CT (P=0.019, OR=4.905,91, 95% CI: 1.355-17.761) and GA (P=0.026, OR=3.052, 95% CI: 1.180-7.892) had signiﬁcantly higher stable angina pectoris (SAP) than unstable angina pectoris (UAP) and acute myocardial infarction (AMI). The presence of HIF-1 genotype CT (P=0.016, OR=13.373, 95% CI: 15.468-32.709) and GA (P=0.001, OR=19.741, 95% CI: 8.125-47.966) predicted lower collateral formation and severity of CAD secondary to the absence of collaterals (r=0.242, P<0.001).
  
  
  CONCLUSIONS
  We conclude that functional polymorphisms in the HIF-1α gene do not modify CAD risk but they are associated with the formation of coronary collaterals and clinical presentation of CAD.
authors.affiliation: Department of Cardiology, First Affiliated Hospital, Shantou University Medical College, Shantou, Guangdong 515041, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Liu
authors.forename: Yun
authors.initials: Y
authors.lastname: Liang
authors.forename: Ping
authors.initials: P
authors.lastname: Zou
authors.forename: Wei-xin
authors.initials: WX
authors.lastname: Ni
authors.forename: Yu-guang
authors.initials: YG
authors.lastname: Li
authors.forename: Song-ming
authors.initials: SM
authors.lastname: Chen
mesh_terms: D000368:Aged; D003097:Collateral Circulation / Q000235:genetics*; D003324:Coronary Artery Disease / Q000453:epidemiology / Q000235:genetics*; D003331:Coronary Vessels; D005260:Female; D005838:Genotype; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics*; D015994:Incidence; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index
chemical_list: D051795:Hypoxia-Inducible Factor 1, alpha Subunit